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    Does growth hormone therapy enlarge pituitary adenomas?
    (Galenos Publishing House, 2022) Bitkin Çelebi, Eda; Kara, Cengiz; Karaman, Serap; Başaranoglu, Murat; Yokuş, Adem; Tuncer, Oğuz
    Objective: Pituitary adenomas are detected incidentally in some cases of childhood growth hormone deficiency. Growth hormones may affect tumor growth. This study analyzed the reliability of growth hormone therapy in patients with non-functioning pituitary adenomas. Methods: The study group included 16 hypopituitary patients with incidentally detected non-functioning pituitary adenoma and treated with recombinant growth hormone. Age- and sex-matched 16 healthy children with incidental pituitary adenoma detected during investigation of chronic headache were selected as the control group. The data of the two groups were retrospectively reviewed and compared regarding the change in adenoma size over time. Results: Changes in adenoma size in the patient and control groups were -0.1 (-0.8-0.3) mm and -0.1 (-0.5-0.3) mm, respectively (p=0.664). Adenoma size growth was detected in 3 patients in the patient group and 5 patients in the control group (p=0.685). Conclusion: Our data suggest that recombinant growth hormone therapy does not produce pituitary adenomas, and thus its use is safe in growth hormone deficient children with incidentally detected non-functioning pituitary adenomas.
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    Novel frameshift autosomal recessive loss-of-function mutation in SMARCD2 encoding a chromatin remodeling factor mediates granulopoiesis
    (2021) Yücel, Esra Özek; Karakuş, İbrahim Serhat; Krolo, Ana; Kıykım, Ayça; Heredia, Raul Jimenez; Tamay, Zeynep; Erol Çipe, Funda; Karakoç Aydıner, Elif; Özen, Ahmet; Karaman, Serap; Boztuğ, Kaan; Barış, Safa
    Purpose: Recently, a new form of congenital neutropenia that is caused by germline biallelic loss-of-function mutations in the SMARCD2 gene was described in four patients. Given the rarity of the condition, the clinical spectrum of the disease has remained elusive. We here report a new patient with a novel frameshift mutation and compare our patient with the previously reported SMARCD2-mutant patients, aiming to provide a more comprehensive understanding of the natural course of the disease. Methods: Clinical and laboratory findings of all reported patients were reviewed. Next-generation sequencing was performed to identify the causative genetic defect. Data on the hematopoietic stem cell transplantation including stem cell sources, conditioning regimen, engraftment, graft-versus-host disease, and infections were also collected. Results: An 11-year-old female patient had a variety of infections including sepsis, deep tissue abscesses, otitis, pneumonia, gingivitis, and diarrhea since infancy. A novel homozygous mutation in SMARCD2 (c.93delG, p.Ala32Argfs*80) was detected. Bone marrow examination showed hypocellularity and decreased neutrophils with diminished granules and myeloid dysplasia, but no blast excess as in previously reported patients. The neutropenia was non-responsive even to higher doses of granulocyte colony-stimulating factor (G-CSF); therefore, the patient was transplanted at 10 years of age from a HLA-A allele–mismatched unrelated donor using a reduced toxicity conditioning regimen and recovered successfully. Compared with the previous four cases, our patient showed longer survival before transplantation without blastic transformation. Conclusion: Distinctive myeloid features and long-term follow-up including therapy options are presented for the newly described case of SMARCD2 deficiency. This disorder is apparent at infancy and requires early transplantation due to the unrelenting disease course despite conventional therapy.
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    Prognostic evidence of LEF1 isoforms in childhood acute lymphoblastic leukemia
    (WILEY, 2021) Erbilgin, Yucel; Hatırnaz Ng, Özden; Can, İsmail; Fırtına, Sinem; Küçükcankurt, Fulya; Karaman, Serap
    Introduction: The lymphoid enhancer factor 1 (LEF1) is a DNA-binding transcription factor that functions in the Wnt signaling pathway. Increased LEF1 activity is associated with progression of several types of cancer including leukemia. Here, we investigated LEF1 isoform expression and genomic variations in acute lymphoblastic leukemia (ALL). Methods: LEF1 isoform expression was evaluated by quantitative real-time PCR in 87 newly diagnosed childhood ALL patients and controls. Moreover, Western blot analysis was performed for detection of LEF1 expression and the hotspot region of LEF1 was screened by deep sequencing. Results: The LEF1 mRNA expression of B cell ALL patients was higher than the controls (LEF1-total P = .011, LEF1-long P = .026). Moreover, B-ALL samples showing higher total LEF1 expression had significantly shorter relapse-free survival (P = .008) and overall survival (P = .011). Although full-length LEF1 expression was similar to the controls in T-ALL, 50% (n = 15) of the ALL patients had increased full-length LEF1 protein expression. Imbalance between short- and full-length LEF1 isoforms may lead to cell survival in ALL. Beside the LEF1 activation, LEF1 gene variations were rarely observed in our cohort. Conclusion: The results indicate that the Wnt pathway may have a pathogenic function in a group of ALL patients and high LEF1-total expression might be a marker for shorter relapse-free survival time in B cell ALL.
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    Prognostic gene alterations and clonal changes in childhood B-ALL
    (Pergamon-Elsevier Science Ltd, 2019) Erbilgin, Yücel; Fırtına, Sinem; Mercan, Sevcan; Ng, Özden Hatırnaz; Karaman, Serap; Taşar, Orçun; Karakaş Zeybek, Didem; Celkan, Tulin Tiraje; Zengin, Emine; Sarper, Nazan; Yildirmak, Zeynep Yildiz; Şişko, Sinem; Özbek, Uğur; Sayitoğlu, Müge
    Genomic profiles of leukemia patients lead to characterization of variations that provide the molecular classification of risk groups, prediction of clinical outcome and therapeutic decisions. In this study, we examined the diagnostic (n = 77) and relapsed (n = 31) pediatric B-cell acute lymphoblastic leukemia (B-ALL) samples for the most common leukemia-associated gene variations CRLF2, JAK2, PAX5 and IL7R using deep sequencing and copy number alterations (CNAs) (CDKN2A/2B, PAX5, RB1, BTG1, ETV6, CSF2RA, IL3RA and CRLF2) by multiplex ligation proximity assay (MLPA), and evaluated for the clonal changes through relapse. Single nucleotide variations SNVs were detected in 19% of diagnostic 15.3% of relapse samples. The CNAs were detected in 55% of diagnosed patients; most common affected genes were CDKN2A/2B, PAX5, and CRLF2. Relapse samples did not accumulate a greater number of CNAs or SNVs than the cohort of diagnostic samples, but the clonal dynamics showed the accumulation/disappearance of specific gene variations explained the course of relapse. The CDKN2A/2B were most frequently altered in relapse samples and 32% of relapse samples carried at least one CNA. Moreover, CDKN2A/2B alterations and/or JAK2 variations were associated with decreased relapse-free survival. On the other hand, CRLF2 copy number alterations predicted a better survival rate in B-ALL. These findings contribute to the knowledge of CDKN2A/2B and CRLF2 alterations and their prognostic value in B-ALL. The integration of genomic data in clinical practice will enable better stratification of ALL patients and allow deeper understanding of the nature of relapse.
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    Zinc finger protein 384 ( ZNF384) impact on childhood mixed phenotype acute leukemia and B-cell precursor acute lymphoblastic leukemia
    (Taylor and Francis, 2022) Sudutan, Tuğce; Erbilgin, Yücel; Hatırnaz, Özden; Karaman, Serap; Karakaş, Zeynep; Küçükcankurt, Fulya; Celkan, Tülin Tiraje; Timur, Çetin; Özdemir, Gül Nihal; Hacısalihoglu, Sadan; Aylan Gelen, Sema; Sayitoğlu, Müge
    B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous malignancy and consists of several genetic abnormalities. Some of these abnormalities are used in clinics for risk calculation and treatment decisions. Patients with ZNF384 rearrangements had a distinct expression profile regardless of their diagnosis, BCP-ALL or mixed phenotype acute leukemia (MPAL) and defined as a new subtype of ALL. In this study, we screened 42 MPAL and 91 BCP-ALL patients for the most common ZNF384 fusions; ZNF384::TCF3, ZNF384::EP300 and ZNF384::TAF15 by using PCR. We identified ZNF384 fusions in 9.5% of MPAL and 7.6% of BCP-ALL. A novel breakpoint was identified in ZNF384::TCF3 fusion in one BCP-ALL patient. T-myeloid MPAL patients showed significantly lower ZNF384 expression compared to lymphoid groups. Patients with ZNF384r had intermediate survival rates based on other subtypes. Prognostic and patient-specific treatment evaluation of ZNF384 fusions in both ALL and MPAL might help to improve risk characterization of patients.